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Human Genetics and Genomics Advances

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DOIs for this ISSN

Showing the top 5 of 522 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 Inclusion of variants discovered from diverse populations im… (10.1016/j.xhgg.2020.100017)
Abstract ORCID
95.42 80
2 Genotype and defects in microtubule-based motility correlate… (10.1016/j.xhgg.2021.100026)
Abstract ORCID
91.63 67
3 Identifying and correcting for misspecifications in GWAS sum… (10.1016/j.xhgg.2022.100136)
Abstract ORCID
91.63 67
4 Transethnic analysis of psoriasis susceptibility in South As… (10.1016/j.xhgg.2021.100069)
Abstract ORCID
80.64 40
5 From pharmacogenetics to pharmaco-omics: Milestones and futu… (10.1016/j.xhgg.2022.100100)
Abstract ORCID
78.41 36
6 Long-read genome sequencing for the molecular diagnosis of n… (10.1016/j.xhgg.2021.100023)
Abstract ORCID
77.82 35
7 Genetic discovery and risk characterization in type 2 diabet… (10.1016/j.xhgg.2021.100029)
Abstract ORCID
77.82 35
8 Ending genetic essentialism through genetics education (10.1016/j.xhgg.2021.100058)
Abstract ORCID
77.20 34
9 Polygenic risk scores in the clinic: Translating risk into a… (10.1016/j.xhgg.2021.100047)
Abstract ORCID
76.57 33
10 Maternal effect genes: Update and review of evidence for a l… (10.1016/j.xhgg.2021.100067)
Abstract ORCID
73.86 29
11 Artificial intelligence-driven pan-cancer analysis reveals m… (10.1016/j.xhgg.2023.100190)
Abstract ORCID
69.01 23
12 MRBEE: A bias-corrected multivariable Mendelian randomizatio… (10.1016/j.xhgg.2024.100290)
Abstract ORCID
68.09 22
13 Lessons learned from the eMERGE Network: balancing genomics… (10.1016/j.xhgg.2020.100018)
Abstract ORCID
67.12 21
14 Transcriptome prediction performance across machine learning… (10.1016/j.xhgg.2020.100019)
Abstract ORCID
66.11 20
15 Disruption of CTNND2, encoding delta-catenin, causes a penet… (10.1016/j.xhgg.2020.100007)
Abstract ORCID
65.05 19
16 Population-based genetic effects for developmental stutterin… (10.1016/j.xhgg.2021.100073)
Abstract ORCID
65.05 19
17 ATTCT and ATTCC repeat expansions in the ATXN10 gene affect… (10.1016/j.xhgg.2022.100137)
Abstract ORCID
63.94 18
18 Cultivating diversity as an ethos with an anti-racism approa… (10.1016/j.xhgg.2021.100052)
Abstract ORCID
62.76 17
19 Novel pathogenic variants and quantitative phenotypic analys… (10.1016/j.xhgg.2021.100074)
Abstract ORCID
62.76 17
20 The PAX1 locus at 20p11 is a potential genetic modifier for… (10.1016/j.xhgg.2021.100025)
Abstract ORCID
61.52 16
21 Genetic ancestry and ethnic identity in Ecuador (10.1016/j.xhgg.2021.100050)
Abstract ORCID
61.52 16
22 Genome-wide sequencing and the clinical diagnosis of genetic… (10.1016/j.xhgg.2022.100108)
Abstract ORCID
61.52 16
23 Neural network classifiers for images of genetic conditions… (10.1016/j.xhgg.2021.100053)
Abstract ORCID
58.80 14
24 Genome-first approach of the prevalence and cancer phenotype… (10.1016/j.xhgg.2023.100242)
Abstract ORCID
58.80 14
25 From karyotypes to precision genomics in 9p deletion and dup… (10.1016/j.xhgg.2021.100081)
Abstract ORCID
57.31 13
26 Ancestral diversity improves discovery and fine-mapping of g… (10.1016/j.xhgg.2022.100099)
Abstract ORCID
57.31 13
27 Germline mutation in POLR2A: a heterogeneous, multi-systemic… (10.1016/j.xhgg.2020.100014)
Abstract ORCID
55.70 12
28 Common deletion variants causing protocadherin-α deficiency… (10.1016/j.xhgg.2021.100037)
Abstract ORCID
55.70 12
29 Integrative approaches generate insights into the architectu… (10.1016/j.xhgg.2021.100038)
Abstract ORCID
55.70 12
30 DeepFace: Deep-learning-based framework to contextualize oro… (10.1016/j.xhgg.2024.100322)
Abstract References ORCID
52.42 4
31 Variants in PHF8 cause a spectrum of X-linked neurodevelopme… (10.1016/j.xhgg.2022.100102)
Abstract ORCID
52.07 10
32 Admixture mapping implicates 13q33.3 as ancestry-of-origin l… (10.1016/j.xhgg.2023.100207)
Abstract ORCID
52.07 10
33 Multi-ancestry genome-wide association study accounting for… (10.1016/j.xhgg.2020.100013)
Abstract ORCID
50.00 9
34 An LDLR missense variant poses high risk of familial hyperch… (10.1016/j.xhgg.2022.100118)
Abstract ORCID
50.00 9
35 Cloud-based biomedical data storage and analysis for genomic… (10.1016/j.xhgg.2023.100196)
Abstract ORCID
50.00 9
36 Diagnostic yield after next-generation sequencing in pediatr… (10.1016/j.xhgg.2024.100286)
Abstract ORCID
50.00 9
37 Novel diagnostic DNA methylation episignatures expand and re… (10.1016/j.xhgg.2021.100075)
Abstract
47.85 81
38 TMEM218 dysfunction causes ciliopathies, including Joubert a… (10.1016/j.xhgg.2020.100016)
Abstract ORCID
47.71 8
39 Cutaneous and hepatic vascular lesions due to a recurrent so… (10.1016/j.xhgg.2021.100028)
Abstract ORCID
47.71 8
40 Pleiotropy-guided transcriptome imputation from normal and t… (10.1016/j.xhgg.2021.100042)
Abstract ORCID
47.71 8
41 Biallelic variants in TAMM41 are associated with low muscle… (10.1016/j.xhgg.2022.100097)
Abstract ORCID
47.71 8
42 Polygenic risk scores of endo-phenotypes identify the effect… (10.1016/j.xhgg.2022.100112)
Abstract ORCID
47.71 8
43 Personalized structural biology reveals the molecular mechan… (10.1016/j.xhgg.2022.100131)
Abstract ORCID
47.71 8
44 Toward reporting standards for the pathogenicity of variant… (10.1016/j.xhgg.2022.100165)
Abstract ORCID
47.71 8
45 A data-driven architecture using natural language processing… (10.1016/j.xhgg.2021.100035)
Abstract ORCID
45.15 7
46 Large-scale cross-cancer fine-mapping of the 5p15.33 region… (10.1016/j.xhgg.2021.100041)
Abstract ORCID
45.15 7
47 Leveraging TOPMed imputation server and constructing a cohor… (10.1016/j.xhgg.2022.100090)
Abstract ORCID
45.15 7
48 First genome-wide association study of esophageal atresia id… (10.1016/j.xhgg.2022.100093)
Abstract ORCID
45.15 7
49 The genetic architecture of Alzheimer disease risk in the Oh… (10.1016/j.xhgg.2022.100114)
Abstract ORCID
45.15 7
50 Developmental genomics of limb malformations: Allelic series… (10.1016/j.xhgg.2022.100132)
Abstract ORCID
45.15 7